Cathepsin-C mutation in an individual with phenotypic features of Haim–Munk syndrome: a case report

Abstract

Haim–Munk syndrome and Papillon–Lefèvre syndrome are rare genodermatoses caused by mutations in CTSC, which encodes cathepsin C. Both syndromes cause palmoplantar keratoderma and are associated with periodontitis. We report a variant in CTSC that has previously been described in Papillon–Lefèvre syndrome but has not previously been reported in Haim–Munk syndrome. We suggest that Papillon–Lefèvre syndrome and Haim–Munk syndrome are a spectrum of diseases, caused by CTSC mutations, with significant overlap in their phenotypic features.